Linked Data
ClinVar Variation Id:
16395
ClinVar RCV Id:
RCV000017821
dbSNP Id:
rs121909624
PubMed:
PMID:15070683
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154567707T>A , CM000666.2:g.154567707T>A | GRCh38 |
| NC_000004.11:g.155488859T>A , CM000666.1:g.155488859T>A | GRCh37 |
| NC_000004.10:g.155708309T>A | NCBI36 |
| NG_008833.1:g.9728T>A , LRG_558:g.9728T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.605T>A MANE Select | ENSP00000306099.4:p.Leu202Gln | |
| ENST00000302068.8:c.605T>A | ENSP00000306099.4:p.Leu202Gln | |
| ENST00000473984.1:n.518T>A | ||
| ENST00000502545.5:n.586T>A | ||
| ENST00000509493.1:c.-53T>A | ENSP00000426757.1:n.-53T>A | |
| NM_001184741.1:c.428T>A | NP_001171670.1:p.Leu143Gln | |
| NM_005141.4:c.605T>A , LRG_558t1:c.605T>A | NP_005132.2:p.Leu202Gln | |
| NM_001382759.1:c.473T>A | NP_001369688.1:p.Leu158Gln | |
| NM_001382760.1:c.605T>A | NP_001369689.1:p.Leu202Gln | |
| NM_001382761.1:c.605T>A | NP_001369690.1:p.Leu202Gln | |
| NM_001382762.1:c.605T>A | NP_001369691.1:p.Leu202Gln | |
| NM_001382763.1:c.605T>A | NP_001369692.1:p.Leu202Gln | |
| NM_001382764.1:c.605T>A | NP_001369693.1:p.Leu202Gln | |
| NM_001382765.1:c.605T>A | NP_001369694.1:p.Leu202Gln | |
| NM_005141.5:c.605T>A MANE Select | NP_005132.2:p.Leu202Gln |